NM_000551.4(VHL):c.578A>G (p.Asn193Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236061.1

Allele description [Variation Report for NM_000551.4(VHL):c.578A>G (p.Asn193Ser)]

NM_000551.4(VHL):c.578A>G (p.Asn193Ser)

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.578A>G (p.Asn193Ser)
HGVS:
  • NC_000003.12:g.10149901A>G
  • NG_008212.3:g.13267A>G
  • NG_046756.1:g.7663A>G
  • NM_000551.3:c.578A>G
  • NM_000551.4:c.578A>GMANE SELECT
  • NM_001354723.2:c.*132A>G
  • NM_198156.3:c.455A>G
  • NP_000542.1:p.Asn193Ser
  • NP_000542.1:p.Asn193Ser
  • NP_937799.1:p.Asn152Ser
  • LRG_322t1:c.578A>G
  • LRG_322:g.13267A>G
  • LRG_322p1:p.Asn193Ser
  • NC_000003.11:g.10191585A>G
  • NC_000003.11:g.10191585A>G
Protein change:
N152S
Links:
dbSNP: rs879254225
NCBI 1000 Genomes Browser:
rs879254225
Molecular consequence:
  • NM_001354723.2:c.*132A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000551.4:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.455A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293889GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 1, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000293889.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted VHL c.578A>G at the cDNA level, p.Asn193Ser (N193S) at the protein level, and results in the change of an Asparagine to a Serine (AAT>AGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. VHL Asn193Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Asparagine and Serine share similar properties, this is considered a conservative amino acid substitution. VHL Asn193Ser occurs at a position that is not conserved and is located within the beta-domain (Yuen 2009). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether VHL Asn193Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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